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Thalassemia Intermedia—Biochemical and Genetic Considerations

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Abstract

THALASSEMIA intermedia is a syndrome with clinical and hematologic manifestations ranging in severity between those observed in thalassemia minor and in thalassemia major (Cooley’s anemia).1–6 The qualifying term intermedia emphasizes the lack of basic knowledge concerning the biochemical and the genetic abnormalities of the various thalassemia syndromes. This paper reports the occurrence of homozygous thalassemia intermedia in an adult with approximately 80 per cent fetal hemoglobin and 3.5 per cent A2 hemoglobin. The parents and the two children of the patient have thalassemia minor with fetal hemoglobin values in a range of 10 to 17 per cent.

Report of a Case

The propositus, a 37-year-old white man of Croatian descent was first examined at the Cleveland Clinic in September, 1955, because of recurrent superficial suppurative lesions of the legs. In 1940 he underwent an appendectomy; at that time he was told that the spleen was enlarged. In 1947, a mild anemia and enlargement of the spleen were diagnosed as Mediterranean anemia. Jaundice was reported to have been present on several occasions. There were no other specific symptoms. He stated that he never had ulcers of the lower extremities. He had had no symptoms suggestive of biliary colic, and had lost no time from his work as a draftsman.

Physical examination revealed a tall thin man. The mucosae were slightly pale and the sclerae were jaundiced. There were numerous pigmented scars on the anterior aspect of the legs, and an ecthymiform lesion on the right calf. No ulcers were present. Superficial . . .


 

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